rs528409234 Rat Genome Database

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Variant: rs528409234 -  Homo sapiens

RGD ID: 12742030
RS ID: rs528409234
ClinVar ID: CV359030
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EZR  LOC126859852  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 159,206,423
GRCh38 6 158,785,391
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000006.12:g.158785391C>T
NC_000006.11:g.159206423C>T
NM_003379.2:c.385G>A
NP_003370.2:p.Ala129Thr
More... 		05/05/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:EZR
Accession:NM_001111077
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPKPINVRVTTMDAELEFAIQPNTTGKQLFDQVVKTIGLREVWYFGLHYVDNKGFPTWLKLDKKVSAQEVRKENPLQFKF
RAKFYPEDVAEELIQDITQKLFFLQVKEGILSDEIYCPPETAVLLGSYTVQAKFGDYNKEVHKSGYLSSERLIPQRVMDQ
HKLTRDQWEDRIQVWHAEHRGMLKDNAMLEYLKIAQDLEMYGINYFEIKNKKGTDLWLGVDALGLNIYEKDDKLTPKIGF
PWSEIRNISFNDKKFVIKPIDKKAPDFVFYAPRLRINKRILQLCMGNHELYMRRRKPDTIEVQQMKAQAREEKHQKQLER
QQLETEKKRRETVEREKEQMMREKEELMLRLQDYEEKTKKAERELSEQIQRALQLEEERKRAQEEAERLEADRMAALRAK
EELERQAVDQIKSQEQLAAELAEYTAKIALLEEARRRKEDEVEEWQHRAKEAQDDLVKTKEELHLVMTAPPPPPPPVYEP
VSYHVQESLQDEGAEPTGYSAELSSEGIRDDRNEEKRITEAEKNERVQRQLLTLSSELSQARDENKRTHNDIIHNENMRQ
GRDKYKTLRQIRQGNTKQRIDEFEAL*

Gene Symbol:EZR
Accession:NM_003379
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPKPINVRVTTMDAELEFAIQPNTTGKQLFDQVVKTIGLREVWYFGLHYVDNKGFPTWLKLDKKVSAQEVRKENPLQFKF
RAKFYPEDVAEELIQDITQKLFFLQVKEGILSDEIYCPPETAVLLGSYTVQAKFGDYNKEVHKSGYLSSERLIPQRVMDQ
HKLTRDQWEDRIQVWHAEHRGMLKDNAMLEYLKIAQDLEMYGINYFEIKNKKGTDLWLGVDALGLNIYEKDDKLTPKIGF
PWSEIRNISFNDKKFVIKPIDKKAPDFVFYAPRLRINKRILQLCMGNHELYMRRRKPDTIEVQQMKAQAREEKHQKQLER
QQLETEKKRRETVEREKEQMMREKEELMLRLQDYEEKTKKAERELSEQIQRALQLEEERKRAQEEAERLEADRMAALRAK
EELERQAVDQIKSQEQLAAELAEYTAKIALLEEARRRKEDEVEEWQHRAKEAQDDLVKTKEELHLVMTAPPPPPPPVYEP
VSYHVQESLQDEGAEPTGYSAELSSEGIRDDRNEEKRITEAEKNERVQRQLLTLSSELSQARDENKRTHNDIIHNENMRQ
GRDKYKTLRQIRQGNTKQRIDEFEAL*

Gene Symbol:EZR
Accession:XM_011536110
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25504542  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000412641 CLINVAR
dbSNP (RS) rs528409234 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene EZR CLINVAR
  LOC126859852 CLINVAR
OMIM 123900 CLINVAR
OMIM Allele 123900.0001 CLINVAR